Endocrinology: Genomics & Stratified Medicine

The work of the Endocrine Centre includes identifying the genetic bases of Endocrine and Metabolic diseases. Our modus operandi is to use the unique clinical resources acquired through our internationally-renowned Clinical Centres (Clinical Leads, Professor William Drake for adult and Dr Jeremy Allgrove for paediatric endocrinology) and state-of-the art genomic technologies and analytical tools in our endeavours to establish the cellular and physiological processes that are perturbed in debilitating disorders of the hypothalamus-pituitary-adrenal axis (Metherell, KorbonitsGaston-Massuet), growth and puberty (Dunkel, StorrCharalambous) and lipid diseases (Shoulders). Particular successes include genetic dissection of the life-threatening disorders of Familial Glucocorticoid Deficiency (left panel), Triple A Syndrome and Familial Isolated Pituitary Adenoma (middle panels); plus extreme HDL-phenotypes (right panel) and the translation of this knowledge into improved therapies. Ongoing exome sequencing studies in selected subsets of affected individuals are revealing the complexities of these disorders, as well as insights into the under-lying biological processes that serve to maintain endocrine and metabolic homeostasis. 

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